A4GALT Protein-coding gene in the species Homo sapiens
A4GALT Identifiers Aliases A4GALT External IDs OMIM : 607922 ; MGI : 3512453 ; GeneCards : A4GALT Gene location (Mouse ) Chr. Chromosome 15 (mouse) Band 15| 15 E1 Start 83,110,923 bp End 83,135,975 bp
RNA expression patternBgee Human Mouse (ortholog)Top expressed in apex of heart olfactory zone of nasal mucosa right auricle of heart gastric mucosa tibial nerve left ventricle thoracic aorta ascending aorta popliteal artery tibial arteries
Top expressed in decidua seminal vesicula interventricular septum choroid plexus of fourth ventricle cardiac muscle tissue of left ventricle entorhinal cortex plantaris muscle extensor digitorum longus muscle corneal stroma zygote
More reference expression data
BioGPS
Wikidata
Lactosylceramide 4-alpha-galactosyltransferase is an enzyme that in humans is encoded by the A4GALT gene .
The protein encoded by this gene catalyzes the transfer of galactose to lactosylceramide to form globotriaosylceramide , which has been identified as the P(k) antigen of the P blood group system. The encoded protein, which is a type II membrane protein found in the Golgi, is also required for the synthesis of the bacterial verotoxins receptor.
References
1 2 3 GRCh38: Ensembl release 89: ENSG00000128274 – Ensembl , May 20171 2 3 GRCm38: Ensembl release 89: ENSMUSG00000047878 – Ensembl , May 2017↑ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .↑ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .↑ Keusch JJ, Manzella SM, Nyame KA, Cummings RD, Baenziger JU (September 2000). "Cloning of Gb3 synthase, the key enzyme in globo-series glycosphingolipid synthesis, predicts a family of alpha 1, 4-glycosyltransferases conserved in plants, insects, and mammals" . The Journal of Biological Chemistry . 275 (33): 25315– 25321. doi :10.1074/jbc.M002630200 PMID 10854428 . 1 2 "Entrez Gene: A4GALT alpha 1,4-galactosyltransferase (globotriaosylceramide synthase)" .
Further reading
Steffensen R, Carlier K, Wiels J, Levery SB, Stroud M, Cedergren B, et al. (June 2000). "Cloning and expression of the histo-blood group Pk UDP-galactose: Ga1beta-4G1cbeta1-cer alpha1, 4-galactosyltransferase. Molecular genetic basis of the p phenotype" . The Journal of Biological Chemistry . 275 (22): 16723– 16729. doi :10.1074/jbc.M000728200 PMID 10747952 . Kojima Y, Fukumoto S, Furukawa K, Okajima T, Wiels J, Yokoyama K, et al. (May 2000). "Molecular cloning of globotriaosylceramide/CD77 synthase, a glycosyltransferase that initiates the synthesis of globo series glycosphingolipids" . The Journal of Biological Chemistry . 275 (20): 15152– 15156. doi :10.1074/jbc.M909620199 PMID 10748143 . Furukawa K, Iwamura K, Uchikawa M, Sojka BN, Wiels J, Okajima T, et al. (December 2000). "Molecular basis for the p phenotype. Identification of distinct and multiple mutations in the alpha 1,4-galactosyltransferase gene in Swedish and Japanese individuals" . The Journal of Biological Chemistry . 275 (48): 37752– 37756. doi :10.1074/jbc.C000625200 PMID 10993874 . Furukawa K, Yokoyama K, Sato T, Wiels J, Hirayama Y, Ohta M, et al. (March 2002). "Expression of the Gb3/CD77 synthase gene in megakaryoblastic leukemia cells: implication in the sensitivity to verotoxins" . The Journal of Biological Chemistry . 277 (13): 11247– 11254. doi :10.1074/jbc.M109519200 PMID 11782470 . Koda Y, Soejima M, Sato H, Maeda Y, Kimura H (January 2002). "Three-base deletion and one-base insertion of the alpha(1,4)galactosyltransferase gene responsible for the P phenotype". Transfusion . 42 (1): 48– 51. doi :10.1046/j.1537-2995.2002.00014.x . PMID 11896312 . S2CID 36675818 . Iwamura K, Furukawa K, Uchikawa M, Sojka BN, Kojima Y, Wiels J, et al. (November 2003). "The blood group P1 synthase gene is identical to the Gb3/CD77 synthase gene. A clue to the solution of the P1/P2/p puzzle" . The Journal of Biological Chemistry . 278 (45): 44429– 44438. doi :10.1074/jbc.M301609200 PMID 12888565 . Hellberg A, Ringressi A, Yahalom V, Säfwenberg J, Reid ME, Olsson ML (May 2004). "Genetic heterogeneity at the glycosyltransferase loci underlying the GLOB blood group system and collection" . British Journal of Haematology . 125 (4): 528– 536. doi :10.1111/j.1365-2141.2004.04930.x PMID 15142124 .
